DES protein-altering variants in ExAC


The table below lists the DES protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord. Variant (CDS) Variant (Protein) Variant Type ExAC frequencyPopulations*
1. 220285374 c.893C>T p.S298L missense 0.00008270
2. 220286086 c.1048C>T p.R350W missense 0.00001651
3. 220286161 c.1123C>T p.R375W missense 0.00003297
4. 220284976 c.643G>A p.V215M missense 0.00005767
5. 220285013 c.680G>A p.R227H missense 0.00001648
6. 220285217 c.736G>A p.E246K missense 0.00000831
7. 220286117 c.1079C>T p.A360V missense 0.00000825
8. 220288534 c.1280A>G p.N427S missense 0.00002471
9. 220290430 c.1334C>T p.T445M missense 0.00006244
10. 220288540 c.1286G>A p.R429Q missense 0.00008238
11. 220283551 c.367A>G p.I123V missense 0.00003502
12. 220284847 c.609A>C p.E203D missense 0.00001647
13. 220284997 c.664C>T p.R222C missense 0.00000824
14. 220285043 c.710C>T p.A237V missense 0.00000826
15. 220285224 c.743G>A p.R248H missense 0.00000830
16. 220285575 c.923A>G p.N308S missense 0.00000828
17. 220285647 c.995C>T p.T332I missense 0.00000835
18. 220286085 c.1047G>A p.M349I missense 0.00000825
19. 220286141 c.1103C>T p.A368V missense 0.00000824
20. 220286194 c.1156C>T p.R386C missense 0.00001649
21. 220288504 c.1250A>G p.N417S missense 0.00000824
22. 220286281 c.1243C>T p.R415W missense 0.00002518
23. 220283293 c.109C>T p.R37W missense 0.00001108
24. 220283350 c.166G>C p.V56L missense 0.00004042
25. 220283377 c.193G>A p.G65S missense 0.00005656
26. 220283555 c.371A>G p.E124G missense 0.00003466
27. 220283704 c.520G>C p.A174P missense 0.00007133
28. 220286216 c.1178A>G p.N393S missense 0.00002474
29. 220283206 c.22A>G p.S8G missense 0.00001014
30. 220283213 c.29G>A p.R10H missense 0.00002002
31. 220283218 c.34T>C p.S12P missense 0.00000995
32. 220283224 c.40T>C p.Y14H missense 0.00001979
33. 220283227 c.43C>G p.R15G missense 0.00000982
34. 220283227 c.43C>T p.R15C missense 0.00000982
35. 220283246 c.62C>T p.A21V missense 0.00000982
36. 220283249 c.65C>G p.P22R missense 0.00003920
37. 220283252 c.68G>A p.G23D missense 0.00000979
38. 220283277 c.93T>G p.S31R missense 0.00000952
39. 220283289 c.105C>A p.F35L missense 0.00001095
40. 220283291 c.107C>G p.P36R missense 0.00001103
41. 220283293 c.109C>G p.R37G missense 0.00001108
42. 220283299 c.115G>A p.G39S missense 0.00001122
43. 220283300 c.116G>A p.G39D missense 0.00001124
44. 220283305 c.121G>A p.G41S missense 0.00001146
45. 220283325 c.141C>A p.S47R missense 0.00001199
46. 220283332 c.148A>T p.T50S missense 0.00001226
47. 220283360 c.176C>T p.T59M missense 0.00001497
48. 220283369 c.185G>A p.G62E missense 0.00001708
49. 220283383 c.199G>A p.G67R missense 0.00004615
50. 220283396 c.212C>T p.A71V missense 0.00008285
51. 220283402 c.218G>A p.R73Q missense 0.00003030
52. 220283408 c.224G>A p.G75E missense 0.00003264
53. 220283411 c.227C>T p.T76I missense 0.00003383
54. 220283537 c.353G>A p.R118H missense 0.00003703
55. 220283547 c.363C>G p.N121K missense 0.00003547
56. 220283575 c.391C>A p.Q131K missense 0.00006976
57. 220283594 c.410C>T p.A137V missense 0.00003709
58. 220283645 c.461T>A p.L154H missense 0.00005157
59. 220284822 c.584A>C p.Q195P missense 0.00003295
60. 220284822 c.584A>G p.Q195R missense 0.00000824
61. 220284831 c.593T>C p.I198T missense 0.00002471
62. 220284840 c.602A>G p.K201R missense 0.00001647
63. 220284841 c.603G>C p.K201N missense 0.00000824
64. 220284861 c.623T>G p.L208W missense 0.00000824
65. 220284976 c.643G>T p.V215L missense 0.00000824
66. 220284980 c.647A>G p.D216G missense 0.00000824
67. 220284982 c.649G>A p.A217T missense 0.00000824
68. 220284983 c.650C>A p.A217E missense 0.00000824
69. 220284995 c.662C>T p.A221V missense 0.00004120
70. 220285000 c.667A>G p.I223V missense 0.00001648
71. 220285009 c.676G>A p.E226K missense 0.00000824
72. 220285012 c.679C>A p.R227S missense 0.00000824
73. 220285012 c.679C>T p.R227C missense 0.00000824
74. 220285016 c.683G>T p.R228I missense 0.00004121
75. 220285027 c.694C>T p.L232F missense 0.00001649
76. 220285030 c.697A>G p.N233D missense 0.00000825
77. 220285042 c.709G>A p.A237T missense 0.00007429
78. 220285060 c.727C>T p.H243Y missense 0.00000828
79. 220285223 c.742C>T p.R248C missense 0.00000831
80. 220285293 c.812C>T p.T271I missense 0.00000829
81. 220285298 c.817G>A p.A273T missense 0.00002486
82. 220285314 c.833G>A p.R278Q missense 0.00000826
83. 220285320 c.839A>G p.Q280R missense 0.00000826
84. 220285344 c.863A>G p.N288S missense 0.00000826
85. 220285356 c.875C>G p.A292G missense 0.00000827
86. 220285556 c.904G>A p.D302N missense 0.00000827
87. 220285568 c.916G>A p.A306T missense 0.00000827
88. 220285576 c.924C>A p.N308K missense 0.00000828
89. 220285589 c.937G>A p.A313T missense 0.00002485
90. 220285595 c.943C>T p.R315C missense 0.00000828
91. 220285596 c.944G>A p.R315H missense 0.00005799
92. 220285596 c.944G>T p.R315L missense 0.00004971
93. 220285614 c.962T>A p.M321K missense 0.00000829
94. 220285626 c.974G>A p.R325Q missense 0.00000831
95. 220285647 c.995C>A p.T332N missense 0.00000835
96. 220286065 c.1027G>A p.D343N missense 0.00002484
97. 220286076 c.1038G>A p.M346I missense 0.00000826
98. 220286087 c.1049G>A p.R350Q missense 0.00003301
99. 220286093 c.1055T>C p.L352S missense 0.00001650
100. 220286102 c.1064G>A p.R355Q missense 0.00004949
101. 220286104 c.1066T>C p.F356L missense 0.00000825
102. 220286132 c.1094A>T p.D365V missense 0.00000824
103. 220286137 c.1099A>C p.I367L missense 0.00002473
104. 220286137 c.1099A>G p.I367V missense 0.00000824
105. 220286155 c.1117G>A p.E373K missense 0.00000824
106. 220286157 c.1119A>T p.E373D missense 0.00000824
107. 220286180 c.1142T>C p.M381T missense 0.00000824
108. 220286185 c.1147C>T p.R383C missense 0.00002473
109. 220286227 c.1189G>A p.A397T missense 0.00000825
110. 220286235 c.1197T>G p.D399E missense 0.00000825
111. 220288516 c.1262A>G p.Q421R missense 0.00000824
112. 220288527 c.1273G>C p.A425P missense 0.00000824
113. 220288530 c.1276C>T p.L426F missense 0.00000824
114. 220288536 c.1282T>G p.F428V missense 0.00000824
115. 220288540 c.1286G>C p.R429P missense 0.00000824
116. 220290397 c.1301A>G p.E434G missense 0.00003188
117. 220290459 c.1363G>A p.D455N missense 0.00001628
118. 220290671 c.1372G>A p.V458I missense 0.00000824
119. 220290684 c.1385C>A p.A462D missense 0.00000824
120. 220288539 c.1285C>T p.R429X nonsense 0.00001648
121. 220283443 c.259G>T p.E87X nonsense 0.00004147
122. 220284872 c.634C>T p.R212X nonsense 0.00001647
123. 220285637 c.985C>T p.Q329X nonsense 0.00000833
124. 220286101 c.1063C>T p.R355X nonsense 0.00000825
125. 220288543 c.1288+1G>A essential splice site 0.00001648
126. 220290468 c.1371+1G>A essential splice site 0.00007697
127. 220283553 c.369delC p.Ile123MetfsTer18 frameshift 0.00007007

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

Genomic coordinates refer to the GRCh37 release of the human genome.